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363212003: Hereditary disorder of musculoskeletal system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482352016 Hereditary disorder of musculoskeletal system en Synonym Active Entire term case insensitive SNOMED CT core module
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

948 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system Is a Disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Oto-palato-digital syndrome, type I Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Oculootoradial syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ballard syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Catel Manzke syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Skeletal dysplasia with intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Fuhrmann syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteocraniostenosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Pacman dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Agnathia, holoprosencephaly, situs inversus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Duane anomaly, myopathy, scoliosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Dyschondrosteosis and nephritis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Macular coloboma, cleft palate, hallux valgus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Thickened earlobe with conductive deafness syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial caudal dysgenesis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Parastremmatic dwarfism Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Microbrachycephaly, ptosis, cleft lip syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Terminal osseous dysplasia and pigmentary defect syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Muscular dystrophy Selcen type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Native American myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Talo-patello-scaphoid osteolysis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Thoracolaryngopelvic dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Grant syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Schimke immuno-osseous dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Patterson Stevenson Fontaine syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Infantile malignant osteopetrosis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Mitochondrial myopathy with sideroblastic anemia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Microspherophakia with metaphyseal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
8q13 microdeletion syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Laryngeal abductor paralysis with intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Keutel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hypertelorism Teebi type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial scaphocephaly syndrome McGillivray type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal dominant osteopetrosis type 2 Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cryptomicrotia brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Crisponi syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Craniomicromelic syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Craniometadiaphyseal dysplasia wormian bone type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Craniolenticulosutural dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital short costocoracoid ligament Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Omodysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic primordial dwarfism types I and III Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial Scheuermann disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Genochondromatosis type 2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short rib polydactyly syndrome type I Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spastic paraplegia with Paget disease of bone syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial chondromalacia of patella Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Splenogonadal fusion, limb defect, micrognathia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short stature locking fingers syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Coxoauricular syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Bone dysplasia lethal Holmgren type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Craniosynostosis fibular aplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cyprus facial neuromusculoskeletal syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hydrocephalus, tall stature, joint laxity syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteopenia, intellectual disability, sparse hair syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Symphalangism with multiple anomalies of hands and feet syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brachydactyly and distal symphalangism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brachydactyly and preaxial hallux varus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital hypoplasia of ulna and split foot syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Camptobrachydactyly Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Trigonocephaly, short stature, developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Absent tibia, polydactyly, arachnoid cyst syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Banki syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Triphalangeal thumb and dislocation of patella syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Camptodactyly taurinuria syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier

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